Lista de obras - Jonathan Sebat - Dominio Público Uruguay

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A framework for the investigation of rare genetic disorders in neuropsychiatry

scientific article published on 23 September 2019

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

artículo científico publicado en 2022

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

artículo científico publicado en 2010

A unified genetic theory for sporadic and inherited autism

artículo científico publicado en 2007

An integrated map of structural variation in 2,504 human genomes

artículo científico publicado en 2015

Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp.

artículo científico publicado en 2001

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

article

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

artículo científico publicado en 2019

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

artículo científico publicado en 2021

CNVs: harbingers of a rare variant revolution in psychiatric genetics

artículo científico publicado en 2012

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells.

artículo científico publicado en 2015

Completing the map of human genetic variation

artículo científico publicado en 2007

Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test

artículo científico publicado en 2008

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Copy-number variants in patients with a strong family history of pancreatic cancer

article

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism

artículo científico publicado en 2021

Differential relationship of DNA replication timing to different forms of human mutation and variation

artículo científico publicado en 2012

Distribution of short paired duplications in mammalian genomes

artículo científico publicado en 2004

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

artículo científico publicado en 2017

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

artículo científico publicado en 2011

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

scientific article published on October 2013

From de novo mutations to personalized therapeutic interventions in autism

artículo científico publicado en 2015

Genetics: Fish heads and human disease

artículo científico publicado en 2012

Genomewide association study of movement-related adverse antipsychotic effects

artículo científico publicado en 2009

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

artículo científico publicado en 2010

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

artículo científico publicado en 2011

Implication of a rare deletion at distal 16p11.2 in schizophrenia

artículo científico publicado en 2013

Inferring haplotypes of copy number variations from high-throughput data with uncertainty

artículo científico publicado en 2011

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

artículo científico publicado en 2020

Large-scale copy number polymorphism in the human genome

artículo científico publicado en 2004

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

artículo científico publicado en 2008

Major changes in our DNA lead to major changes in our thinking

artículo científico publicado en 2007

Mapping copy number variation by population-scale genome sequencing

artículo científico publicado en 2011

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

artículo científico publicado en 2018

Metagenomic profiling: microarray analysis of an environmental genomic library

artículo científico publicado en 2003

Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes

artículo científico publicado en 2002

Microduplications of 16p11.2 are associated with schizophrenia

artículo científico publicado en 2009

Modelling schizophrenia using human induced pluripotent stem cells

artículo científico publicado en 2011

Multi-platform discovery of haplotype-resolved structural variation in human genomes

artículo científico publicado en 2019

PROBER: oligonucleotide FISH probe design software

artículo científico publicado en 2006

Paternally inherited cis-regulatory structural variants are associated with autism.

artículo científico publicado en 2018

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

scientific article published on 11 April 2014

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

artículo científico publicado en 2022

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

scientific article published on 20 November 2019

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

artículo científico publicado en 2008

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

artículo científico publicado en 2009

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

artículo científico publicado en 2013

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders

artículo científico publicado en 2010

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

artículo científico publicado en 2011

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

artículo científico publicado en 2003

Sensitive and accurate detection of copy number variants using read depth of coverage

artículo científico publicado en 2009

Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

artículo científico publicado en 2015

Strong association of de novo copy number mutations with autism

artículo científico publicado en 2007

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

artículo científico publicado en 2015

The effects of common structural variants on 3D chromatin structure

artículo científico publicado en 2020

The role of rare structural variants in the genetics of autism spectrum disorders

artículo científico publicado en 2008

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

artículo científico publicado en 2012

forestSV: structural variant discovery through statistical learning

artículo científico publicado en 2012

Lista de obras de Jonathan Sebat

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A framework for the investigation of rare genetic disorders in neuropsychiatry

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

A unified genetic theory for sporadic and inherited autism

An integrated map of structural variation in 2,504 human genomes

Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp.

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

CNVs: harbingers of a rare variant revolution in psychiatric genetics

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells.

Completing the map of human genetic variation

Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Copy-number variants in patients with a strong family history of pancreatic cancer

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism

Differential relationship of DNA replication timing to different forms of human mutation and variation

Distribution of short paired duplications in mammalian genomes

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

From de novo mutations to personalized therapeutic interventions in autism

Genetics: Fish heads and human disease

Genomewide association study of movement-related adverse antipsychotic effects

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

Implication of a rare deletion at distal 16p11.2 in schizophrenia

Inferring haplotypes of copy number variations from high-throughput data with uncertainty

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Large-scale copy number polymorphism in the human genome

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Major changes in our DNA lead to major changes in our thinking

Mapping copy number variation by population-scale genome sequencing

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Metagenomic profiling: microarray analysis of an environmental genomic library

Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes

Microduplications of 16p11.2 are associated with schizophrenia

Modelling schizophrenia using human induced pluripotent stem cells

Multi-platform discovery of haplotype-resolved structural variation in human genomes

PROBER: oligonucleotide FISH probe design software

Paternally inherited cis-regulatory structural variants are associated with autism.

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

Sensitive and accurate detection of copy number variants using read depth of coverage

Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

Strong association of de novo copy number mutations with autism

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

The effects of common structural variants on 3D chromatin structure

The role of rare structural variants in the genetics of autism spectrum disorders

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

forestSV: structural variant discovery through statistical learning